MSMB
MCID: MYP106
MIFTS: 33

Myopathy, Myosin Storage, Autosomal Recessive (MSMB)

Categories: Genetic diseases, Muscle diseases

Aliases & Classifications for Myopathy, Myosin Storage, Autosomal Recessive

MalaCards integrated aliases for Myopathy, Myosin Storage, Autosomal Recessive:

Name: Myopathy, Myosin Storage, Autosomal Recessive 56 12 73 29 6 39
Msmb 56 12 73
Myopathy, Hyaline Body, Autosomal Recessive 56 73
Autosomal Recessive Hyaline Body Myopathy 12

Characteristics:

OMIM:

56
Miscellaneous:
slow progression
clinical variability
onset ranges from childhood to young adulthood
two unrelated families have been reported (last curated june 2015)

Inheritance:
autosomal recessive


HPO:

31
myopathy, myosin storage, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:



Summaries for Myopathy, Myosin Storage, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Myopathy, myosin storage, autosomal recessive: An autosomal recessive form of myosin storage myopathy, a muscle disease characterized by subsarcolemmal accumulation of hyalinized bodies in type 1 muscle fibers. MSMB clinical features include muscle weakness, type II respiratory failure and cardiac failure, due to hypertrophic cardiomyopathy.

MalaCards based summary : Myopathy, Myosin Storage, Autosomal Recessive, also known as msmb, is related to prostate cancer and prostate cancer, hereditary, 13. An important gene associated with Myopathy, Myosin Storage, Autosomal Recessive is MYH7 (Myosin Heavy Chain 7). Affiliated tissues include prostate, heart and skeletal muscle, and related phenotypes are scoliosis and high palate

Disease Ontology : 12 A hyaline body myopathy that has material basis in compound heterozygous or homozygous mutation in MYH7 on 14q11.2.

More information from OMIM: 255160

Related Diseases for Myopathy, Myosin Storage, Autosomal Recessive

Diseases in the Myopathy, Myosin Storage, Autosomal Dominant family:

Myopathy, Myosin Storage, Autosomal Recessive

Diseases related to Myopathy, Myosin Storage, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 27, show less)
# Related Disease Score Top Affiliating Genes
1 prostate cancer 12.1
2 prostate cancer, hereditary, 13 11.8
3 creutzfeldt-jakob disease 11.4
4 prostatitis 11.3
5 dental caries 11.3
6 scrapie 11.3
7 prion disease 11.3
8 gerstmann-straussler disease 11.1
9 kuru 11.1
10 phosphoribosylpyrophosphate synthetase superactivity 11.1
11 arts syndrome 11.1
12 charcot-marie-tooth disease, x-linked recessive, 5 11.1
13 fatal familial insomnia 11.1
14 myopathy, myosin storage, autosomal dominant 11.1
15 necatoriasis 11.1
16 chronic wasting disease 11.1
17 prostatic hyperplasia, benign 10.2
18 prostatic hypertrophy 10.2
19 male infertility 10.2
20 azoospermia 10.2
21 prostatic adenoma 10.2
22 adenocarcinoma 10.2
23 infertility 10.2
24 myopathy, distal, 1 10.1
25 stormorken syndrome 10.1
26 hyaline body myopathy 10.1
27 myopathy 10.1

Graphical network of the top 20 diseases related to Myopathy, Myosin Storage, Autosomal Recessive:



Diseases related to Myopathy, Myosin Storage, Autosomal Recessive

Symptoms & Phenotypes for Myopathy, Myosin Storage, Autosomal Recessive

Human phenotypes related to Myopathy, Myosin Storage, Autosomal Recessive:

31 (showing 13, show less)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 high palate 31 occasional (7.5%) HP:0000218
3 myopathic facies 31 occasional (7.5%) HP:0002058
4 hypertrophic cardiomyopathy 31 HP:0001639
5 elevated serum creatine kinase 31 HP:0003236
6 congestive heart failure 31 HP:0001635
7 respiratory insufficiency 31 HP:0002093
8 dilated cardiomyopathy 31 HP:0001644
9 emg: myopathic abnormalities 31 HP:0003458
10 type 1 muscle fiber predominance 31 HP:0003803
11 centrally nucleated skeletal muscle fibers 31 HP:0003687
12 scapuloperoneal amyotrophy 31 HP:0003697
13 scapuloperoneal weakness 31 HP:0003704

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
hypertrophic cardiomyopathy
dilated cardiomyopathy
cardiac failure
cardiac muscle contains hyaline bodies

Muscle Soft Tissue:
scapuloperoneal weakness
myopathic changes seen on emg
centralized nuclei
scapuloperoneal atrophy
type i fiber predominance seen on muscle biopsy
more
Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Face:
myopathic facies (in some patients)

Respiratory:
respiratory insufficiency

Skeletal Spine:
scoliosis (in some patients)

Head And Neck Mouth:
high-arched palate (in some patients)

Clinical features from OMIM:

255160

Drugs & Therapeutics for Myopathy, Myosin Storage, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Myopathy, Myosin Storage, Autosomal Recessive

Genetic Tests for Myopathy, Myosin Storage, Autosomal Recessive

Genetic tests related to Myopathy, Myosin Storage, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Myopathy, Myosin Storage, Autosomal Recessive 29 MYH7

Anatomical Context for Myopathy, Myosin Storage, Autosomal Recessive

MalaCards organs/tissues related to Myopathy, Myosin Storage, Autosomal Recessive:

40
Prostate, Heart, Skeletal Muscle, Breast, Liver, Skin, Testes

Publications for Myopathy, Myosin Storage, Autosomal Recessive

Articles related to Myopathy, Myosin Storage, Autosomal Recessive:

(showing 119, show less)
# Title Authors PMID Year
1
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. 6 56
25666907 2015
2
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. 56 6
17372140 2007
3
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32. 56 6
14659406 2004
4
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 6
19336582 2009
5
The Ubiquitin-Proteasome System Does Not Regulate the Degradation of Porcine β-Microseminoprotein during Sperm Capacitation. 61
32532042 2020
6
A genome-wide association study of prostate cancer in Latinos. 61
31226226 2020
7
Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB. 61
32065238 2020
8
Urinary prostate-specific antigen and microseminoprotein-beta levels in men with and without prostate cancer: A prospective cohort study. 61
31983827 2020
9
A meta-analysis of influence of MSMB promoter rs10993994 polymorphisms on prostate cancer risk. 61
31773691 2019
10
Analysis of Over 140,000 European Descendants Identifies Genetically Predicted Blood Protein Biomarkers Associated with Prostate Cancer Risk. 61
31337649 2019
11
Characterization of an immortalized human small airway basal stem/progenitor cell line with airway region-specific differentiation capacity. 61
31443657 2019
12
Association of imputed prostate cancer transcriptome with disease risk reveals novel mechanisms. 61
31308362 2019
13
Factors Related to Medication Self-Management in African American Older Women. 61
30893443 2019
14
Contribution of MSMB promoter region gene polymorphism to early-onset prostate cancer risk in Mexican males. 61
30774776 2019
15
Efficiently Encoding Complex Biochemical Models with the Multistate Model Builder (MSMB). 61
30945244 2019
16
Expression pattern of genes associated with tumor microenvironment in prostate cancer. 61
30593751 2018
17
Immunohistochemical biomarker validation in highly selective needle biopsy microarrays derived from mpMRI-characterized prostates. 61
30073682 2018
18
Search for genetic factor association with cancer-free prostate-specific antigen level elevation on the basis of a genome-wide association study in the Korean population. 61
28471803 2018
19
Comparative analysis of ovarian transcriptomes between prolific and non-prolific goat breeds via high-throughput sequencing. 61
29134700 2018
20
Prostate tumors downregulate microseminoprotein-beta (MSMB) in the surrounding benign prostate epithelium and this response is associated with tumor aggressiveness. 61
29250809 2018
21
Genetic factors influencing prostate cancer risk in Norwegian men. 61
29181843 2018
22
Effects of increasing the PSA cutoff to perform additional biomarker tests before prostate biopsy. 61
28974201 2017
23
Network-directed cis-mediator analysis of normal prostate tissue expression profiles reveals downstream regulatory associations of prostate cancer susceptibility loci. 61
29156765 2017
24
MSMB gene rs10993994 polymorphism increases the risk of prostate cancer. 61
28212531 2017
25
Urological cancer related to familial syndromes. 61
27819754 2017
26
Prostate cancer screening in men aged 50 to 69 years (STHLM3): A prospective population-based diagnostic study. Grönberg H, Adolfsson J, Aly M, Nordström T, Wiklund P, Brandberg Y, Thompson J, Wiklund F, Lindberg J, Clements M, Egevad L, Eklund M.Lancet Oncol. 2015 Dec;16(16):1667-76. [Epub 2015 Nov 10]. doi: 10.1016/S1470-2045(15)00361-7. 61
28215847 2017
27
Differentially expressed genes and gene networks involved in pig ovarian follicular atresia. 61
27940565 2017
28
The Effect of Phototherapy on Cancer Predisposition Genes of Diabetic and Normal Human Skin Fibroblasts. 61
28386563 2017
29
Cranberry intervention in patients with prostate cancer prior to radical prostatectomy. Clinical, pathological and laboratory findings. 61
27833172 2016
30
Overexpression and purification of folded domain of prostate cancer related proteins MSMB and PSA. 61
27038170 2016
31
Systematic meta-analyses of gene-specific genetic association studies in prostate cancer. 61
26967244 2016
32
A Four-kallikrein Panel Predicts High-grade Cancer on Biopsy: Independent Validation in a Community Cohort. 61
25979570 2016
33
Seasonal proteome changes of nasal mucus reflect perennial inflammatory response and reduced defence mechanisms and plasticity in allergic rhinitis. 61
26732727 2016
34
Long-Term Transcriptomic Effects of Prebiotics and Synbiotics Delivered In Ovo in Broiler Chickens. 61
28002487 2016
35
Biosynthetic engineering and fermentation media development leads to gram-scale production of spliceostatin natural products in Burkholderia sp. 61
26620532 2016
36
Microseminoprotein-Beta Expression in Different Stages of Prostate Cancer. 61
26939004 2016
37
Prostate cancer screening in men aged 50-69 years (STHLM3): a prospective population-based diagnostic study. 61
26563502 2015
38
Altered intestinal functions and increased local inflammation in insulin-resistant obese subjects: a gene-expression profile analysis. 61
26376914 2015
39
Integration of copy number and transcriptomics provides risk stratification in prostate cancer: A discovery and validation cohort study. 61
26501111 2015
40
Prognostic and predictive molecular biological markers in prostate cancer - significance of expression of genes PCA3 and TMPRSS2. 61
25563374 2015
41
Association of prostate cancer risk variants with gene expression in normal and tumor tissue. 61
25371445 2015
42
The rs10993994 in the proximal MSMB promoter region is a functional polymorphism in Asian Indian subjects. 61
26240778 2015
43
TRAMP prostate tumor growth is slowed by walnut diets through altered IGF-1 levels, energy pathways, and cholesterol metabolism. 61
25354213 2014
44
Multi-transcript profiling in archival diagnostic prostate cancer needle biopsies to evaluate biomarkers in non-surgically treated men. 61
25227682 2014
45
Promoter Polymorphism (rs12770170, -184C/T) of Microseminoprotein, Beta as a Risk Factor for Benign Prostatic Hyperplasia in Korean Population. 61
24987558 2014
46
Prostate cancer (PCa) risk variants and risk of fatal PCa in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. 61
24411283 2014
47
MSMB variation and prostate cancer risk: clues towards a possible fungal etiology. 61
24464504 2014
48
Expression patterns of candidate susceptibility genes HNF1β and CtBP2 in prostate cancer: association with tumor progression. 61
24332637 2014
49
Multistate Model Builder (MSMB): a flexible editor for compact biochemical models. 61
24708852 2014
50
Pleiotropy of cancer susceptibility variants on the risk of non-Hodgkin lymphoma: the PAGE consortium. 61
24598796 2014
51
MALDI MS profiling of post-DRE urine samples highlights the potential of β-microseminoprotein as a marker for prostatic diseases. 61
24115268 2014
52
Functional characterization of Corynebacterium glutamicum mycothiol S-conjugate amidase. 61
25514023 2014
53
MSMB gene variant alters the association between prostate cancer and number of sexual partners. 61
24037734 2013
54
Oncogenic herpesvirus HHV-8 promotes androgen-independent prostate cancer growth. 61
24005834 2013
55
Association of prostate cancer susceptibility variant (MSMB) rs10993994 with risk of spermatogenic failure. 61
23608167 2013
56
Liver x receptors protect from development of prostatic intra-epithelial neoplasia in mice. 61
23675307 2013
57
Association of transcript levels of 10 established or candidate-biomarker gene targets with cancerous versus non-cancerous prostate tissue from radical prostatectomy specimens. 61
23391636 2013
58
Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population. 61
23269536 2013
59
Genome-wide mRNA profiling and multiplex quantitative RT-PCR for forensic body fluid identification. 61
23026559 2013
60
Investigation of the relationship between prostate cancer and MSMB and NCOA4 genetic variants and protein expression. 61
22887727 2013
61
The search for secreted proteins in prostate cancer by the Escherichia coli ampicillin secretion trap: expression of NBL1 is highly restricted to the prostate and is related to cancer progression. 61
22948749 2013
62
Promoter variants in the MSMB gene associated with prostate cancer regulate MSMB/NCOA4 fusion transcripts. 61
22661295 2012
63
The expression of β-microseminoprotein but not CRISP3 is reduced in ovarian cancer and correlates to survival. 61
22993349 2012
64
The prostate cancer risk locus at 10q11 is associated with DNA repair capacity. 61
22677538 2012
65
Genetic and functional analyses implicate the NUDT11, HNF1B, and SLC22A3 genes in prostate cancer pathogenesis. 61
22730461 2012
66
Interactions between genome-wide significant genetic variants and circulating concentrations of insulin-like growth factor 1, sex hormones, and binding proteins in relation to prostate cancer risk in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. 61
22459122 2012
67
The role of Pax2 in mouse prostate development. 61
21594883 2012
68
Quadriplex model enhances urine-based detection of prostate cancer. 61
21788966 2011
69
A novel MSMB-related microprotein in the postovulatory egg coats of marsupials. 61
22208949 2011
70
Evaluation of the prognostic significance of MSMB and CRISP3 in prostate cancer using automated image analysis. 61
21240253 2011
71
Prostate cancer predisposition loci and risk of metastatic disease and prostate cancer recurrence. 61
21343373 2011
72
Evidence for an association between prostate cancer and chromosome 8q24 and 10q11 genetic variants in African American men: the Flint Men's Health Study. 61
20717903 2011
73
Validation of genome-wide prostate cancer associations in men of African descent. 61
21071540 2011
74
Replication of GWAS "Hits" by Race for Breast and Prostate Cancers in European Americans and African Americans. 61
22303333 2011
75
Deep RNA sequencing analysis of readthrough gene fusions in human prostate adenocarcinoma and reference samples. 61
21261984 2011
76
Effect of androgen deprivation therapy on the expression of prostate cancer biomarkers MSMB and MSMB-binding protein CRISP3. 61
20680031 2010
77
Clinical risk management approach for long-duration space missions. 61
21197858 2010
78
Analysis of the 10q11 cancer risk locus implicates MSMB and NCOA4 in human prostate tumorigenesis. 61
21085629 2010
79
A common prostate cancer risk variant 5' of microseminoprotein-beta (MSMB) is a strong predictor of circulating beta-microseminoprotein (MSP) levels in multiple populations. 61
20736317 2010
80
The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine. 61
20967219 2010
81
Context-dependent effects of genome-wide association study genotypes and macroenvironment on time to biochemical (prostate specific antigen) failure after prostatectomy. 61
20826827 2010
82
Polymorphisms at the Microseminoprotein-beta locus associated with physiologic variation in beta-microseminoprotein and prostate-specific antigen levels. 61
20696662 2010
83
A functional polymorphism in MSMB gene promoter is associated with prostate cancer risk and serum MSMB expression. 61
20333697 2010
84
Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer. 61
20569440 2010
85
Genome-wide association studies in common cancers--what have we learnt? 61
20418093 2010
86
Blood biomarker levels to aid discovery of cancer-related single-nucleotide polymorphisms: kallikreins and prostate cancer. 61
20424135 2010
87
Crystal structure of prostate secretory protein PSP94 shows an edge-to-edge association of two monomers to form a homodimer. 61
20184897 2010
88
Unliganded estrogen receptor-beta regulation of genes is inhibited by tamoxifen. 61
19744542 2010
89
Differential gene expression triggered by highly cytotoxic alpha-emitter-immunoconjugates in gastric cancer cells. 61
19139817 2010
90
The potential value of microseminoprotein-beta as a prostate cancer biomarker and therapeutic target. 61
19790236 2010
91
Mutation analysis of the MSMB gene in familial prostate cancer. 61
19997100 2010
92
Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer. 61
19644707 2009
93
Rapidly evolving marmoset MSMB genes are differently expressed in the male genital tract. 61
19737427 2009
94
The Ccr4-NOT deadenylase subunits CNOT7 and CNOT8 have overlapping roles and modulate cell proliferation. 61
19605561 2009
95
Individual and cumulative effect of prostate cancer risk-associated variants on clinicopathologic variables in 5,895 prostate cancer patients. 61
19434657 2009
96
Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility. 61
19383797 2009
97
Fine mapping association study and functional analysis implicate a SNP in MSMB at 10q11 as a causal variant for prostate cancer risk. 61
19153072 2009
98
Generalizability of associations from prostate cancer genome-wide association studies in multiple populations. 61
19318432 2009
99
Identification of new genetic risk factors for prostate cancer. 61
19050691 2009
100
Cancer-associated splicing variants of the CDCA1 and MSMB genes expressed in cancer cell lines and surgically resected gastric cancer tissues. 61
19081476 2009
101
beta-Microseminoprotein in human spermatozoa and its potential role in male fertility. 61
18469041 2008
102
Recovery of a Burkholderia thailandensis-like isolate from an Australian water source. 61
18384685 2008
103
Multiple loci identified in a genome-wide association study of prostate cancer. 61
18264096 2008
104
Multiple newly identified loci associated with prostate cancer susceptibility. 61
18264097 2008
105
Sexual selection and the adaptive evolution of mammalian ejaculate proteins. 61
18032407 2008
106
The gene encoding the prostatic tumor suppressor PSP94 is a target for repression by the Polycomb group protein EZH2. 61
17237810 2007
107
[Identification of gastric cancer-related genes by multiple high throughput analysis and data mining]. 61
17380461 2007
108
Markers of prostate region-specific epithelial identity define anatomical locations in the mouse prostate that are molecularly similar to human prostate cancers. 61
17244021 2007
109
Genomic analysis defines a cancer-specific gene expression signature for human squamous cell carcinoma and distinguishes malignant hyperproliferation from benign hyperplasia. 61
16470182 2006
110
Strong bias in the location of functional promoter polymorphisms. 61
16086313 2005
111
A novel knock-in prostate cancer model demonstrates biology similar to that of human prostate cancer and suitable for preclinical studies. 61
15727931 2005
112
Solution conformations of mycothiol bimane, 1-D-GlcNAc-alpha-(1 --> 1)-D-myo-Ins and 1-D-GlcNAc-alpha-(1 --> 1)-L-myo-Ins. 61
12713335 2003
113
Duplicate copies of genes encoding methanesulfonate monooxygenase in Marinosulfonomonas methylotropha strain TR3 and detection of methanesulfonate utilizers in the environment. 61
11772638 2002
114
A novel mycothiol-dependent detoxification pathway in mycobacteria involving mycothiol S-conjugate amidase. 61
10978158 2000
115
Molecular analysis of a novel methanesulfonic acid monooxygenase from the methylotroph Methylosulfonomonas methylovora. 61
10094704 1999
116
Assignment of the human beta-microseminoprotein gene (MSMB) to chromosome 10q11.2. 61
8978767 1996
117
Human gene for beta-microseminoprotein: its promoter structure and chromosomal localization. 61
7608123 1995
118
Cloning, sequencing, and characterization of multicopy suppressors of a mukB mutation in Escherichia coli. 61
7984109 1994
119
Assignment of the human gene for beta-microseminoprotein (MSMB) to chromosome 10 and demonstration of related genes in other vertebrates. 61
1783399 1991

Variations for Myopathy, Myosin Storage, Autosomal Recessive

ClinVar genetic disease variations for Myopathy, Myosin Storage, Autosomal Recessive:

6 (showing 23, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)SNV Pathogenic 14102 rs3218714 14:23898488-23898488 14:23429279-23429279
2 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)SNV Pathogenic 14125 rs267606908 14:23893321-23893321 14:23424112-23424112
3 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His)SNV Pathogenic 42875 rs371898076 14:23896042-23896042 14:23426833-23426833
4 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
5 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)SNV Pathogenic/Likely pathogenic 43100 rs397516264 14:23900811-23900811 14:23431602-23431602
6 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)SNV Pathogenic/Likely pathogenic 42874 rs397516127 14:23896043-23896043 14:23426834-23426834
7 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)SNV Pathogenic/Likely pathogenic 14088 rs3218713 14:23900677-23900677 14:23431468-23431468
8 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)SNV Pathogenic/Likely pathogenic 14092 rs121913628 14:23893268-23893268 14:23424059-23424059
9 MYH7 NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)SNV Pathogenic/Likely pathogenic 164312 rs397516171 14:23893250-23893250 14:23424041-23424041
10 MYH7 NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)SNV Conflicting interpretations of pathogenicity 181282 rs145734640 14:23884305-23884305 14:23415096-23415096
11 MYH7 NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)SNV Conflicting interpretations of pathogenicity 179272 rs727504753 14:23898554-23898554 14:23429345-23429345
12 MYH7 NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)SNV Conflicting interpretations of pathogenicity 43117 rs372731424 14:23899792-23899792 14:23430583-23430583
13 MYH7 NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)SNV Uncertain significance 177629 rs369437262 14:23884437-23884437 14:23415228-23415228
14 MYH7 NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met)SNV Uncertain significance 180024 rs727505294 14:23884594-23884594 14:23415385-23415385
15 MYH7 NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg)SNV Uncertain significance 42966 rs397516188 14:23889170-23889170 14:23419961-23419961
16 MYH7 NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)SNV Uncertain significance 42976 rs397516195 14:23888715-23888715 14:23419506-23419506
17 MYH7 NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)SNV Uncertain significance 42985 rs372727092 14:23887606-23887606 14:23418397-23418397
18 MYH7 NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)SNV Uncertain significance 14121 rs121913652 14:23883224-23883224 14:23414015-23414015
19 MYH7 NM_000257.4(MYH7):c.5774G>A (p.Arg1925His)SNV Uncertain significance 407171 rs752553589 14:23882984-23882984 14:23413775-23413775
20 MYH7 NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)SNV Uncertain significance 36641 rs141764279 14:23887607-23887607 14:23418398-23418398
21 MYH7 NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)SNV Uncertain significance 42858 rs397516119 14:23897052-23897052 14:23427843-23427843
22 MYH7 NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)SNV Uncertain significance 177846 rs727504355 14:23884476-23884476 14:23415267-23415267
23 MYH7 NM_000257.4(MYH7):c.745C>G (p.Arg249Gly)SNV Uncertain significance 181322 rs730880852 14:23900678-23900678 14:23431469-23431469

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myosin Storage, Autosomal Recessive:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 MYH7 p.Arg1820Trp VAR_073887 rs145734640

Expression for Myopathy, Myosin Storage, Autosomal Recessive

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GO Terms for Myopathy, Myosin Storage, Autosomal Recessive

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